ClinVar Miner

Submissions for variant NM_003721.4(RFXANK):c.707G>A (p.Arg236Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002633617 SCV003515721 uncertain significance MHC class II deficiency 2022-05-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with RFXANK-related conditions. This variant is present in population databases (rs780122862, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 236 of the RFXANK protein (p.Arg236Gln).

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